Literature DB >> 19252784

Central core disease and susceptibility to malignant hyperthermia in a single family.

Lara Colleoni, Giorgia Melli, Lucia Morandi, Paola Cudia, Stefania Romaggi, Renato Mantegazza, Pia Bernasconi.   

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Year:  2009        PMID： 19252784     DOI： 10.1007/s00415-009-5051-4

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  10 in total

1.  Central core disease due to recessive mutations in RYR1 gene: is it more common than described?

Authors:  Patrícia M Kossugue; Júlia F Paim; Monica M Navarro; Helga C Silva; Rita C M Pavanello; Juliana Gurgel-Giannetti; Mayana Zatz; Mariz Vainzof
Journal:  Muscle Nerve       Date:  2007-05       Impact factor: 3.217

Review 2.  Modulation of the ryanodine receptor and intracellular calcium.

Authors:  Ran Zalk; Stephan E Lehnart; Andrew R Marks
Journal:  Annu Rev Biochem       Date:  2007       Impact factor: 23.643

3.  Topology of the Ca2+ release channel of skeletal muscle sarcoplasmic reticulum (RyR1).

Authors:  Guo Guang Du; Bimal Sandhu; Vijay K Khanna; Xing Hua Guo; David H MacLennan
Journal:  Proc Natl Acad Sci U S A       Date:  2002-12-16       Impact factor: 11.205

Review 4.  Mutations in RYR1 in malignant hyperthermia and central core disease.

Authors:  Rachel Robinson; Danielle Carpenter; Marie-Anne Shaw; Jane Halsall; Philip Hopkins
Journal:  Hum Mutat       Date:  2006-10       Impact factor: 4.878

Review 5.  Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders.

Authors:  Susan Treves; Ayuk A Anderson; Sylvie Ducreux; Alexandra Divet; Christophe Bleunven; Cristiano Grasso; Silvia Paesante; Francesco Zorzato
Journal:  Neuromuscul Disord       Date:  2005-10       Impact factor: 4.296

6.  Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.

Authors:  Lucia Galli; Alfredo Orrico; Stefania Lorenzini; Stefano Censini; Michela Falciani; Antonello Covacci; Vincenzo Tegazzin; Vincenzo Sorrentino
Journal:  Hum Mutat       Date:  2006-08       Impact factor: 4.878

7.  [In vitro contracture test and gene typing in diagnosing malignant hyperthermia. Each as an appropriate complement to the other method].

Authors:  H Rüffert; D Olthoff; C Deutrich; B Thamm; U Froster
Journal:  Anaesthesist       Date:  2000-02       Impact factor: 1.041

8.  Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.

Authors:  Haiyan Zhou; Heinz Jungbluth; Caroline A Sewry; Lucy Feng; Enrico Bertini; Kate Bushby; Volker Straub; Helen Roper; Michael R Rose; Martin Brockington; Maria Kinali; Adnan Manzur; Stephanie Robb; Richard Appleton; Sonia Messina; Adele D'Amico; Ros Quinlivan; Michael Swash; Clemens R Müller; Susan Brown; Susan Treves; Francesco Muntoni
Journal:  Brain       Date:  2007-05-04       Impact factor: 13.501

9.  Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis.

Authors:  N Tilgen; F Zorzato; B Halliger-Keller; F Muntoni; C Sewry; L M Palmucci; C Schneider; E Hauser; F Lehmann-Horn; C R Müller; S Treves
Journal:  Hum Mol Genet       Date:  2001-12-01       Impact factor: 6.150

Review 10.  Central core disease.

Authors:  Heinz Jungbluth
Journal:  Orphanet J Rare Dis       Date:  2007-05-15       Impact factor: 4.123
  10 in total

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